Alexander disease (AD), megalencephalic leukodystrophy with subcortical cysts (MLC), vanishing WM (VWM), globoid cell leukodystrophy (GLD, Krabbe disease)
Neurons & axons
POLR3-related leukodystrophies, hypomyelination with atrophy of basal ganglia & cerebellum (H-ABC)
Microglia
CSF1R-related disorders
IMAGING
General Features
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Mallack EJ et al: MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: meta-analysis and consensus guidelines. J Inherit Metab Dis. 44(3):728-39, 2021
Yazbeck E et al: Progressive leukodystrophy-like demyelinating syndromes with MOG-antibodies in children: a rare under-recognized phenotype. Neuropediatrics. 52(4):337-40, 2021
Perrier S et al: Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet. 6(3):e425, 2020
Soderholm HE et al: Elevated leukodystrophy incidence predicted from genomics databases. Pediatr Neurol. 111:66-9, 2020
van der Knaap MS et al: Diagnosis, prognosis, and treatment of leukodystrophies. Lancet Neurol. 18(10):962-72, 2019
van der Knaap MS et al: Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol. 134(3):351-82, 2017
van der Knaap MS et al: Leukodystrophies: five new things. Neurol Clin Pract. 6(6):506-14, 2016
Vanderver A et al: Leukodystrophy overview, 2014
van der Knaap MS et al: Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. 11(11):973-85, 2012
Bugiani M et al: Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol. 70(1):69-82, 2011
Bonkowsky JL et al: The burden of inherited leukodystrophies in children. Neurology. 75(8):718-25, 2010
i Dali C et al: Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy. Neurology. 75(21):1896-903, 2010
van der Knaap MS et al: Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol. 67(6):834-7, 2010
Duffner PK et al: The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med. 11(6):450-4, 2009
Wu Y et al: Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. J Hum Genet. 54(2):74-7, 2009
Gorospe JR et al: Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. Ment Retard Dev Disabil Res Rev. 12(2):113-22, 2006
Brockmann K et al: Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol. 250(3):300-6, 2003
Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
TERMINOLOGY
Definitions
Heritable disorders primarily impacting structure & function of white matter (WM) in CNS
Classification
Multiple classification schemes have been proposed
Based on clinical phenotype, imaging phenotype, pathologic phenotype, &/or cellular organelle affected
Recent classification is based upon component of WM impacted
Alexander disease (AD), megalencephalic leukodystrophy with subcortical cysts (MLC), vanishing WM (VWM), globoid cell leukodystrophy (GLD, Krabbe disease)
Neurons & axons
POLR3-related leukodystrophies, hypomyelination with atrophy of basal ganglia & cerebellum (H-ABC)
Microglia
CSF1R-related disorders
IMAGING
General Features
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Mallack EJ et al: MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: meta-analysis and consensus guidelines. J Inherit Metab Dis. 44(3):728-39, 2021
Yazbeck E et al: Progressive leukodystrophy-like demyelinating syndromes with MOG-antibodies in children: a rare under-recognized phenotype. Neuropediatrics. 52(4):337-40, 2021
Perrier S et al: Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet. 6(3):e425, 2020
Soderholm HE et al: Elevated leukodystrophy incidence predicted from genomics databases. Pediatr Neurol. 111:66-9, 2020
van der Knaap MS et al: Diagnosis, prognosis, and treatment of leukodystrophies. Lancet Neurol. 18(10):962-72, 2019
van der Knaap MS et al: Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol. 134(3):351-82, 2017
van der Knaap MS et al: Leukodystrophies: five new things. Neurol Clin Pract. 6(6):506-14, 2016
Vanderver A et al: Leukodystrophy overview, 2014
van der Knaap MS et al: Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. 11(11):973-85, 2012
Bugiani M et al: Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol. 70(1):69-82, 2011
Bonkowsky JL et al: The burden of inherited leukodystrophies in children. Neurology. 75(8):718-25, 2010
i Dali C et al: Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy. Neurology. 75(21):1896-903, 2010
van der Knaap MS et al: Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol. 67(6):834-7, 2010
Duffner PK et al: The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med. 11(6):450-4, 2009
Wu Y et al: Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. J Hum Genet. 54(2):74-7, 2009
Gorospe JR et al: Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. Ment Retard Dev Disabil Res Rev. 12(2):113-22, 2006
Brockmann K et al: Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol. 250(3):300-6, 2003
Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003
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